A344G (p.Ala344Gly) variant of FGFR2 (P21802)
A344G (p.Ala344Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related disorder; FGFR2-related craniosynostosis; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A344G (p.Ala344Gly) variant details
- p.Ala344Gly
- rs121918492
- ClinGen CA280171
- ClinVar RCV000014187
- ClinVar RCV000014188
- Pathogenic
- FGFR2-related disorder; FGFR2-related craniosynostosis; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.75
- CADD 22.80
- ClinVar: Pathogenic (FGFR2-related disorder; FGFR2-related craniosynostosis; Pfeiffer)
- EBI: Pathogenic (in CS and JWS)
- UniProt: Pathogenic (in CS and JWS)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (PMID 7581378)
- Cited in: Craniofacial syndromes: no such thing as a single gene disease. (PMID 7719329)